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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 10-95628405-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=95628405&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 95628405,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000371224.7",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.896C>T",
"hgvs_p": "p.Thr299Ile",
"transcript": "NM_002860.4",
"protein_id": "NP_002851.2",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 795,
"cds_start": 896,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 1039,
"cdna_end": null,
"cdna_length": 3352,
"mane_select": "ENST00000371224.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.896C>T",
"hgvs_p": "p.Thr299Ile",
"transcript": "ENST00000371224.7",
"protein_id": "ENSP00000360268.2",
"transcript_support_level": 1,
"aa_start": 299,
"aa_end": null,
"aa_length": 795,
"cds_start": 896,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 1039,
"cdna_end": null,
"cdna_length": 3352,
"mane_select": "NM_002860.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.890C>T",
"hgvs_p": "p.Thr297Ile",
"transcript": "ENST00000371221.3",
"protein_id": "ENSP00000360265.3",
"transcript_support_level": 1,
"aa_start": 297,
"aa_end": null,
"aa_length": 793,
"cds_start": 890,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 3337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.896C>T",
"hgvs_p": "p.Thr299Ile",
"transcript": "NM_001323413.2",
"protein_id": "NP_001310342.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 795,
"cds_start": 896,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 1190,
"cdna_end": null,
"cdna_length": 3503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.896C>T",
"hgvs_p": "p.Thr299Ile",
"transcript": "NM_001323414.2",
"protein_id": "NP_001310343.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 795,
"cds_start": 896,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 1347,
"cdna_end": null,
"cdna_length": 3660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.890C>T",
"hgvs_p": "p.Thr297Ile",
"transcript": "NM_001017423.2",
"protein_id": "NP_001017423.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 793,
"cds_start": 890,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 1033,
"cdna_end": null,
"cdna_length": 3346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.890C>T",
"hgvs_p": "p.Thr297Ile",
"transcript": "NM_001323415.2",
"protein_id": "NP_001310344.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 793,
"cds_start": 890,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 3497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.791C>T",
"hgvs_p": "p.Thr264Ile",
"transcript": "NM_001323417.2",
"protein_id": "NP_001310346.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 760,
"cds_start": 791,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 3247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.563C>T",
"hgvs_p": "p.Thr188Ile",
"transcript": "NM_001323412.2",
"protein_id": "NP_001310341.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 684,
"cds_start": 563,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 824,
"cdna_end": null,
"cdna_length": 3137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.563C>T",
"hgvs_p": "p.Thr188Ile",
"transcript": "NM_001323416.2",
"protein_id": "NP_001310345.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 684,
"cds_start": 563,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 975,
"cdna_end": null,
"cdna_length": 3288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.557C>T",
"hgvs_p": "p.Thr186Ile",
"transcript": "NM_001323418.2",
"protein_id": "NP_001310347.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 682,
"cds_start": 557,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 969,
"cdna_end": null,
"cdna_length": 3282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.260C>T",
"hgvs_p": "p.Thr87Ile",
"transcript": "NM_001323419.2",
"protein_id": "NP_001310348.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 583,
"cds_start": 260,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 2882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "n.261C>T",
"hgvs_p": null,
"transcript": "ENST00000489386.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"dbsnp": "rs2275272",
"frequency_reference_population": 0.11689856,
"hom_count_reference_population": 11755,
"allele_count_reference_population": 188653,
"gnomad_exomes_af": 0.118514,
"gnomad_genomes_af": 0.101384,
"gnomad_exomes_ac": 173221,
"gnomad_genomes_ac": 15432,
"gnomad_exomes_homalt": 10828,
"gnomad_genomes_homalt": 927,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0019159018993377686,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.314,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.184,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.267,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000371224.7",
"gene_symbol": "ALDH18A1",
"hgnc_id": 9722,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD,SD",
"hgvs_c": "c.896C>T",
"hgvs_p": "p.Thr299Ile"
}
],
"clinvar_disease": " autosomal dominant 3,ALDH18A1-related de Barsy syndrome,Autosomal dominant spastic paraplegia type 9,Autosomal recessive complex spastic paraplegia type 9B,Cutis laxa,Hereditary spastic paraplegia 9A,de Barsy syndrome,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:9",
"phenotype_combined": "not specified|ALDH18A1-related de Barsy syndrome|Cutis laxa, autosomal dominant 3|Autosomal recessive complex spastic paraplegia type 9B|Hereditary spastic paraplegia 9A|not provided|Autosomal dominant spastic paraplegia type 9;de Barsy syndrome;Cutis laxa, autosomal dominant 3",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}